Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.K192delFs

PQBP1

170 papers

RefSeq Summary

This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients w...

Gene Aliases

HGNC Name

polyglutamine binding protein 1

HGNC Previous Symbols

RENS1; MRXS8; SHS; MRX55; MRX2; MRXS3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001032382.2
p.K192delFs
c.575_576delAG
Surrounding Variants
4 papers
NM_001032382.2
p.K192fs
c.574_575fs
1 paper
NM_001032382.2
p.A193Fs
c.577delinsGCAFs
1 paper
NM_001032382.2
p.Y187*
c.561T>A
1 paper
NM_001032382.2
p.Y187*
c.561T>G
1 paper
NM_001032382.2
p.Y187fs
c.559_560fs
3 papers
NM_001032382.2
p.Y187delFs
c.559delT
1 paper
NM_001032382.2
p.A185V
c.554C>T
1 paper
NM_001032382.2
p.E183G
c.548A>G
1 paper
NM_001032382.2
p.E183fs
c.547_548fs
4 papers
NM_001032382.2
p.E183_S190delFs
c.547_569del23
1 paper
NM_001032382.2
p.R181W
c.541C>T
1 paper
NM_001032382.2
p.R180L
c.539G>T
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